Canonical Allele Identifier: CA645575722
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68759577_68759608del , CM000673.2:g.68759577_68759608del GRCh38
NC_000011.9:g.68527045_68527076del , CM000673.1:g.68527045_68527076del GRCh37
NC_000011.8:g.68283621_68283652del NCBI36
NG_011801.1:g.87325_87356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.2197_2228del MANE Select ENSP00000265641.4:p.Asn733Ter
ENST00000265641.9:c.2197_2228del ENSP00000265641.4:p.Asn733Ter
ENST00000376618.6:c.2197_2228del ENSP00000365803.2:p.Asn733Ter
ENST00000539743.5:c.2197_2228del ENSP00000446108.1:p.Asn733Ter
ENST00000540367.5:c.2197_2228del ENSP00000439084.1:p.Asn733Ter
NM_001031847.2:c.2197_2228del NP_001027017.1:p.Asn733Ter
NM_001876.3:c.2197_2228del NP_001867.2:p.Asn733Ter
XM_005273762.1:c.2293_2324del XP_005273819.1:p.Asn765Ter
XM_005273763.1:c.2293_2324del XP_005273820.1:p.Asn765Ter
XM_005273762.3:c.2293_2324del XP_005273819.1:p.Asn765Ter
XM_017017220.1:c.2197_2228del XP_016872709.1:p.Asn733Ter
NM_001876.4:c.2197_2228del MANE Select NP_001867.2:p.Asn733Ter
NM_001031847.3:c.2197_2228del NP_001027017.1:p.Asn733Ter